Risk of congenital heart defects in relatives of patients with atrioventricular canal
M. C. Digilio, B. Marino, M. P. Cicini, A. Giannotti, R. Formigari and B. Dallapiccola
Department of Medical Genetics, Bambino Gesu Hospital, Rome, Italy.
OBJECTIVE--To investigate the overall occurrence of congenital heart
disease in 103 pedigrees with a proband affected with atrioventricular
canal. DESIGN--Family study of patient series. SETTING--Department of
Pediatric Cardiology, Bambino Gesu' Hospital, Rome, Italy.
PARTICIPANTS--One hundred three consecutive patients with atrioventricular
canal and normal karyotype and their first- and second-degree relatives.
INTERVENTIONS--None. MEASUREMENTS/MAIN RESULTS--In 12 pedigrees (11.7%),
one or more relatives had concordant or discordant congenital heart
disease. Congenital heart disease occurred in four (1.9%) of the 206
parents of probands, in four (3.6%) of the 111 siblings, and in five (0.8%)
of the 644 uncles or aunts. None of the grandparents had congenital heart
disease. Atrioventricular canal affected several family members in five
pedigrees. CONCLUSIONS--Familial aggregation of atrioventricular canal in
several pedigrees requires careful collection of family histories, accurate
cardiologic evaluation of the first- and second-degree relatives of the
probands, and fetal echocardiography in all pregnant women in at-risk
families.
